Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 5 1993 2011
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 5 1987 2012
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.050 1.000 5 2006 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.050 1.000 5 2003 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.050 0.800 5 2011 2017
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.730 1.000 5 2014 2019
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 1.000 5 2012 2020
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.720 1.000 5 2002 2018
dbSNP: rs387907205
rs387907205
0.925 0.160 12 25227313 missense variant A/C;G snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs387907206
rs387907206
1.000 12 25225625 missense variant T/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 0.600 5 2011 2017
dbSNP: rs727503108
rs727503108
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 5 2006 2013
dbSNP: rs727503110
rs727503110
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2002 2011
dbSNP: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 1993 2011
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
Malignant neoplasm of colon and/or rectum
0.040 1.000 4 2014 2019
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 1.000 4 2015 2019
dbSNP: rs121913238
rs121913238
0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 4 2002 2008
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 1.000 4 2014 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.740 1.000 4 2003 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.710 1.000 4 1987 2004
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.040 1.000 4 2013 2019